Bentley, David R.

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature

Genomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Cited by 24,216

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 9,442

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 2,977

Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

Dawson, S.-J., Tsui, D. W. Y., Murtaza, M., Biggs, H., Rueda, O. M., Chin, S.-F., Dunning, M. J., Gale, D., Forshew, T., Mahler-Araujo, B., et al. (2013) · New England Journal of Medicine

Cancer Genomics and DiagnosticsBRCA gene mutations in cancer

Cited by 2,207

A comprehensive catalogue of somatic mutations from a human cancer genome

Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,696

The DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Dolzhenko, E., Deshpande, V., Schlesinger, F., Krusche, P., Petrovski, R., Chen, S., Emig-Agius, D., Gross, A., Narzisi, G., Bowman, B., et al. (2019) · Bioinformatics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 394

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

Paragraph: a graph-based structural variant genotyper for short-read sequence data

Chen, S., Krusche, P., Dolzhenko, E., Sherman, R. M., Petrovski, R., Schlesinger, F., Kirsche, M., Bentley, D. R., Schatz, M. C., Sedlazeck, F. J., et al. (2019) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 196

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Chen, X., Shen, F., Gonzaludo, N., Malhotra, A., Rogert, C., Taft, R. J., Bentley, D. R., & Eberle, M. A. (2021) · The Pharmacogenomics Journal

Pharmacogenetics and Drug MetabolismGenomics and Rare Diseases

Cited by 95

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

Zhang, W., Collins, A., Gibson, J., Tapper, W. J., Hunt, S., Deloukas, P., Bentley, D. R., & Morton, N. E. (2004) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 49

The Association Between Polymorphisms in RLIP76 and Drug Response in Epilepsy

Leschziner, G. D., Jorgensen, A. L., Andrew, T., Williamson, P. R., Marson, A. G., Coffey, A. J., Middleditch, C., Balding, D. J., Rogers, J., Bentley, D. R., et al. (2007) · Pharmacogenomics

Epilepsy research and treatmentPharmacogenetics and Drug Metabolism

Cited by 18